ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129253
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30475
ClinVar RCV Id:
RCV000023432
RCV000202544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Thr740Ile
CA129251
NM_021625.5:c.2219C>T